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Vitiligo

CASP7 · rs12771452

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−11, with 1 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 2,853 European ancestry cases and 37,405 European ancestry controls; replicated in 1,827 European ancestry cases and 2,181 European ancestry controls.

The effect Each copy of the G allele carried 1.22 times the odds of Vitiligo (95% confidence interval 1.15-1.28); p = 4 × 10−12.

How common The G allele had a frequency of about 74% in the people studied.

Where it sits Chromosome 10, band 10q25.3 — in an intron of CASP7.

How common each version is

AG
Korean KRGDB
A 39.7% · G 60.3%
Korean Korea4K
A 39.6% · G 60.4%
Korean Korea1K
A 39.1% · G 60.9%
Japanese ToMMo
A 46.8% · G 53.2%
Vietnamese
A 36.9% · G 63.1%
World gnomAD
A 23.1% · G 76.9%
World 1000 Genomes
A 25.1% · G 74.9%
World TOPMed
A 22.7% · G 77.3%

By ancestry gnomAD

East Asian
A 41.4% · G 58.6%
European (non-Finnish)
A 26.2% · G 73.8%
African / African American
A 14.6% · G 85.4%
South Asian
A 23.8% · G 76.2%
Admixed American (Latino)
A 23.9% · G 76.1%
Middle Eastern
A 19.4% · G 80.6%
Finnish
A 27.2% · G 72.8%
Ashkenazi Jewish
A 18.3% · G 81.7%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A No copy of the version the research linked to Vitiligo. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Vitiligo. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Vitiligo. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants
Jin Y, Andersen G, Yorgov D, Ferrara TM, Ben S, Brownson KM, Holland PJ, Birlea SA, Siebert J, Hartmann A, Lienert A, van Geel N
and 32 more — show all
Lambert J, Luiten RM, Wolkerstorfer A, Wietze van der Veen JP, Bennett DC, Taïeb A, Ezzedine K, Kemp EH, Gawkrodger DJ, Weetman AP, Kõks S, Prans E, Kingo K, Karelson M, Wallace MR, McCormack WT, Overbeck A, Moretti S, Colucci R, Picardo M, Silverberg NB, Olsson M, Valle Y, Korobko I, Böhm M, Lim HW, Hamzavi I, Zhou L, Mi QS, Fain PR, Santorico SA, Spritz RA
Nature genetics · 2016 · PMID 27723757 · open access

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Vitiligo (rs12771452). MyGeneLog™. https://www.mygenelog.com/variants/rs12771452

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